rs11807086

Variant names:

• chr1-214891045-G-A
• rs11807086

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.0801 in 152,168 control chromosomes in the GnomAD database, including 651 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.080 (651 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.360
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.218 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.0802 AC: 12190 AN: 152052 Hom.: 652 Cov.: 32

Gnomad AFR AF: 0.113

Gnomad AMI AF: 0.00658

Gnomad AMR AF: 0.0688

Gnomad ASJ AF: 0.0435

Gnomad EAS AF: 0.229

Gnomad SAS AF: 0.183

Gnomad FIN AF: 0.0446

Gnomad MID AF: 0.0633

Gnomad NFE AF: 0.0522

Gnomad OTH AF: 0.0972

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.0801 AC: 12191 AN: 152168 Hom.: 651 Cov.: 32 AF XY: 0.0821 AC XY: 6106 AN XY: 74392

African (AFR) AF: 0.113 AC: 4671 AN: 41504

American (AMR) AF: 0.0686 AC: 1049 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.0435 AC: 151 AN: 3470

East Asian (EAS) AF: 0.229 AC: 1185 AN: 5176

South Asian (SAS) AF: 0.182 AC: 879 AN: 4820

European-Finnish (FIN) AF: 0.0446 AC: 473 AN: 10594

Middle Eastern (MID) AF: 0.0782 AC: 23 AN: 294

European-Non Finnish (NFE) AF: 0.0522 AC: 3552 AN: 67998

Other (OTH) AF: 0.0957 AC: 202 AN: 2110

Alfa AF: 0.0623 Hom.: 1511

Bravo AF: 0.0819

Asia WGS AF: 0.162 AC: 563 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	0.45
DANN	Benign	0.59
PhyloP100		-0.36

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs11807086; hg19: chr1-215064388;